Repositório Colecção:http://hdl.handle.net/10198/1059
Thu, 14 Dec 2017 02:31:41 GMT2017-12-14T02:31:41ZQue técnica usar nos cuidados ao cordão umbilical do recém-nascidohttp://hdl.handle.net/10198/13290
Título: Que técnica usar nos cuidados ao cordão umbilical do recém-nascido
Autor: Correia, Teresa; Pires, Catarina Sofia Martins
Resumo: É durante o puerpério que o Enfermeiro ESMO cuida do RN de forma a promover o bem-estar e potenciar a sua saúde, incluindo os cuidados ao coto umbilical. Parece existirem diferentes práticas nos cuidados ao coto umbilical do RN, que se caraterizam pela não uniformização e nem sempre baseadas em evidência científica. Na prestação de cuidados surgem, às vezes, dúvidas. A primeira premissa para sanar estas questões, baseia-se no recurso à evidência, sendo a prática baseada na evidência a mais aceite e deverá ser praticada.Fri, 01 Jan 2016 00:00:00 GMThttp://hdl.handle.net/10198/132902016-01-01T00:00:00ZSex education in schools: what teenagers really know?http://hdl.handle.net/10198/11535
Título: Sex education in schools: what teenagers really know?
Autor: Correia, Teresa; Correia, Carlos; Martins, Matilde
Resumo: In the current framework of guidance considers the obligation to address sexual education in schools in Portugal (Law No. 60/2009 of 6 August, Order No. 196-A / 2010 of 9 April). Objectives: To identify students knowledge in relation to new legislation and basics of sex education.
Cross-sectional study with a sample with 530 students from secondary schools of a northern region of Portugal. The assessment protocol includes sociodemographic questionnaire (Correia 2004) and it was applied from October to December of 2011. Data analysis was performed using SPSS. The informed consent was obtain from schools.
The proportion of students who know the current law on sex education in schools is 37.4%, the proportion of female students who know this law is greater than that of males (41.3% vs. 32.2%). Exist a statistical significant association between this knowledge and sex (p = 0.037), continuing the girls the most informed group. About 30% of students in this sample doesn't identify basic concepts of sexual and reproductive health and family planning neither sexually transmitted infections. In relation to knowledge about contraception also found a statistical significant association with sex (p <0.000), with a higher proportion of knowledge for the female group who also knows more than a contraceptive method (78.7% vs. 55.7%).
The weak information of adolescents knowledge about sex education and gender differences still seem to persist in spite of the existence of sex education in schools from Portugal. Maybe sex education should be a subject in a curriculum from a school, being responsible for this subject a teacher that must be specialized in the area of sexuality.Wed, 01 Jan 2014 00:00:00 GMThttp://hdl.handle.net/10198/115352014-01-01T00:00:00ZPrediction of deleterious nsSNPs in human UGT1A1 gene by web available algorithm toolshttp://hdl.handle.net/10198/11266
Título: Prediction of deleterious nsSNPs in human UGT1A1 gene by web available algorithm tools
Autor: Rodrigues, Carina; Costa, Elísio; Vieira, Emília; Santos, Rosário; Santos-Silva, Alice; Bronze-da-Rocha, Elsa
Resumo: The uridine diphosphate glucuronosyltransferase (UGT1A1) belongs to the class of phase II enzymes involved in the metabolism and detoxification of numerous xenobiotic and endogenous compounds (e.g. bilirubin). Genotyping data lead to the discovery of over 100 single nucleotide polymorphisms (SNPs) within the UGT1A1 gene. Some of the non-synonymous (ns) SNPs (nsSNPs) of the human UGT1A1 gene variants have been associated to hyperbilirubinemia in Gilbert’s and Crigler-Najjar syndromes, as well as altered drug clearance and/or drug response. In UGT1A1, and other genes, there are many nsSNPs which genotype-phenotype correlations were not established, since the study of the functional impact of all SNPs is time consuming and expensive. Alternatively, bioinformatics tools have gained an increased importance with the prospect of reducing the totality of detailed studies at protein level.
The aim of this study was to investigate the potential of bioinformatics approaches, using five web available algorithms [Sorting Intolerant from Tolerant (SIFT); polymorphism phenotyping-2 (PolyPhen-2); Align Grantham Variance/Grantham Difference (Align-GVGD); Multivariate Analysis of Protein Polymorphism (MAPP); Block Substitution Matrix score 62 (BLOSUM62)], to predict the phenotype of 28 human UGT1A1 nsSNPs, previously characterized at protein level by in vivo and in vitro studies. From those, 24 SNPs were confirmed as responsible for changes in protein function and in 4 there were no detected impact. Information describing the UGT1A1 variants was obtained from mutation database websites: http://www.polydoms.cchmc.org/polydoms, http://www.mutdb.org, and http://www.ncbi.nlm.nih.gov/sites/entrez.
Results from in silico analysis showed a correct prediction rate of 85.7% for Polyphen-2, 82.0% for both BLOSUM62 and SIFT, 60.7% for MAPP and 32.1% for Align-GVGD. In the total of 28 studied variants, 78.6% (n=22) had concordant results using Polyphen-2 and SIFT algorithms and 57.1% (n=16) using Polyphen-2, SIFT and BLOSUM62. Concordance in variants prediction, between the five used methods and with results obtained at protein levels, was observed in 14.3% (n=4) nsSNPs. In conclusion, our results showed that SIFT and Polyphen together, were the best predictor methods of nsSNPs phenotype in human UGT1A1 gene. These tools have the advantage of directing and complement functional assays. However, the observed discrepancy in variants prediction phenotype may be improved with a method combining all currently available criterions.Sat, 01 Jan 2011 00:00:00 GMThttp://hdl.handle.net/10198/112662011-01-01T00:00:00ZUgt1a1 gene variants and total bilirubin levels in healthy subjects and in gilbert syndrome patientshttp://hdl.handle.net/10198/11260
Título: Ugt1a1 gene variants and total bilirubin levels in healthy subjects and in gilbert syndrome patients
Autor: Rodrigues, Carina; Vieira, Emília; Santos, Rosário; Carvalho, João; Santos-Silva, Alice; Costa, Elísio; Bronze-da-Rocha, Elsa
Resumo: Gilbert syndrome (GS, OMIM 606785) is an autosomal recessive condition characterized by unconjugated hiperbilirubinemia in the absence of hemolysis or underlying liver disease due to the reduced activity of the uridine diphosphate-glucuronosyltransferase (UGT1A1). This enzyme is mainly expressed in the liver and has an important role in the glucuronidation of bilirubin, 17β-estradiol, some therapeutic drugs and mutagenic xenobiotics. Absence or severe reductions of UGT1A1 activity are associated with Crigler-Najjar syndrome type I and type II, respectively. Heterozygous carriers of Crigler-Najjar syndrome also present a high incidence of mild hyperbilirubinemia, a feature of GS.
Aim: This work investigated the effect of UGT1A1 variants on total bilirubin levels in Gilbert patients (n=45) and healthy controls (n=161).
Total bilirubin levels were determined using a colorimetric method. Molecular analysis of exons 1-5 and two UGT1A1 promoter regions were performed by direct sequencing and automatic analysis of fragments. Five in silico methods predicted the effect of new identified variants.
A significant different allelic distribution, in Gilbert patients and in controls, was found for two promoter polymorphisms. Among patients, 82.2% were homozygous and 17.8% heterozygous for the c.-41_-40dupTA allele; in control group, 9.9% were homozygous and 43.5% heterozygous for this promoter variant, while 46.6% (n=75) presented the [A(TA)6TAA]. For the T>G transition at c.-3279 promoter region, in patients, 86.7% were homozygous and 13.3% heterozygous; in control group, 33.5% were homozygous for the wild type allele, 44.1% were heterozygous and 22.4% homozygous for the mutated allele. The two polymorphisms were in Hardy-Weinberg equilibrium in both groups. Sequencing of UGT1A1 coding region identified nine novel variants, five in patients and four in controls. In silico analysis of these amino acids replacements predicted four of them as benign and three as damaging.
Conclusions: We demonstrated that total bilirubin levels are manly determined by the TA duplication in the TATA-box promoter and by the c.-3279T>G variant. Alterations in the UGT1A1 coding region seem to be associated with increased bilirubin levels, and therefore with Gilbert Syndrome.Sun, 01 Jan 2012 00:00:00 GMThttp://hdl.handle.net/10198/112602012-01-01T00:00:00Z